Review articles

	Detecting low penetrance genes in cancer: the way ahead R S Houlston and I P M Tomlinson J Med Genet 2000; 37: 161-167. doi:10.1136/jmg.37.3.161 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations Fred Petrij, Hans G Dauwerse, Ruthann I Blough, Rachel H Giles, Jasper J van der Smagt, Robert Wallerstein, Petra D Maaswinkel-Mooy, Clara D van Karnebeek, Gert-Jan B van Ommen, Arie van Haeringen, Jack H Rubinstein, Howard M Saal, Raoul C M Hennekam, Dorien J M Peters, and Martijn H Breuning J Med Genet 2000; 37: 168-176. doi:10.1136/jmg.37.3.168 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutation analysis in glutaric aciduria type I Johannes Zschocke, Elfriede Quak, Per Guldberg, and Georg F Hoffmann J Med Genet 2000; 37: 177-181. doi:10.1136/jmg.37.3.177 [Abstract] [Full text] [PDF] [Request Permissions]
	Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland S P McIlroy, V L S Crawford, K B Dynan, B M McGleenon, M D Vahidassr, J T Lawson, and A P Passmore J Med Genet 2000; 37: 182-185. doi:10.1136/jmg.37.3.182 [Abstract] [Full text] [PDF] [Request Permissions]
	Age and sex based genetic locus heterogeneity in type 1 diabetes Andrew D Paterson and Arturas Petronis J Med Genet 2000; 37: 186-191. doi:10.1136/jmg.37.3.186 [Abstract] [Full text] [PDF] [Request Permissions]
	A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer Jonathon Gray, Kate Brain, Paul Norman, Cathy Anglim, Liz France, Garry Barton, Lucy Branston, Evelyn Parsons, Angus Clarke, Julian Sampson, Elizabeth Roberts, Robert Newcombe, David Cohen, Cerilan Rogers, Robert Mansel, and Peter Harper J Med Genet 2000; 37: 192-196. doi:10.1136/jmg.37.3.192 [Abstract] [Full text] [PDF] [Request Permissions]
	Why do women attend familial breast cancer clinics? Kate Brain, Jonathon Gray, Paul Norman, Evelyn Parsons, Angus Clarke, Cerilan Rogers, Robert Mansel, and Peter Harper J Med Genet 2000; 37: 197-202. doi:10.1136/jmg.37.3.197 [Abstract] [Full text] [PDF] [Request Permissions]

Clinical genetics in practice

	Guidelines for a genetic risk based approach to advising women with a family history of breast cancer D M Eccles, D G R Evans, and J Mackay J Med Genet 2000; 37: 203-209. doi:10.1136/jmg.37.3.203 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	No evidence of germline PTEN mutations in familial prostate cancer MATTHEW S FORREST, STEPHEN M EDWARDS, RIFAT A HAMOUDI, DAVID P DEARNALEY, AUDREY ARDEN-JONES, ANNA DOWE, ANNETTE MURKIN, JO KELLY, M DAWN TEARE, DOUGLAS F EASTON, MARGARET A KNOWLES, D TIMOTHY BISHOP, ROSALIND A EELES, THE CRC/BPG UK FAMILIAL PROSTATE CANCER STUDY COLLABORATORS, and THE EC BIOMED FAMILIAL PROSTATE CANCER STUDY COLLABORATORS J Med Genet 2000; 37: 210-212. doi:10.1136/jmg.37.3.210 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome DANIEL CATCHPOOLE, ALAN V SMALLWOOD, JOHANNA A JOYCE, ADELE MURRELL, WAYNE LAM, TONGWEI TANG, DAVID MUNROE, WOLF REIK, PAUL N SCHOFIELD, and EAMONN R MAHER J Med Genet 2000; 37: 212-215. doi:10.1136/jmg.37.3.212 [Extract] [Full text] [PDF] [Request Permissions]
	A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients JIANJUN WANG, MICHAEL C BOWMAN, EVELYN HSU, KARIN WERTZ, and LEE-JUN C WONG J Med Genet 2000; 37: 215-218. doi:10.1136/jmg.37.3.215 [Extract] [Full text] [PDF] [Request Permissions]
	The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity VANESSA JAYNE DEEBLE, EMMA ROBERTS, ANDREW JACKSON, NICHOLAS LENCH, GULSHAN KARBANI, and CHRISTOPHER GEOFFERY WOODS J Med Genet 2000; 37: 219. doi:10.1136/jmg.37.3.219 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene GEERT MORTIER, LIEVE NUYTINCK, MARGARITA CRAEN, JEAN-PIERRE RENARD, JULES G LEROY, and ANNE DE PAEPE J Med Genet 2000; 37: 220-224. doi:10.1136/jmg.37.3.220 [Extract] [Full text] [PDF] [Request Permissions]
	Screening British CADASIL families for mutations in the NOTCH3 gene R P J DE LANGE, J BOLT, E REID, R DA SILVA, D J SHAW, and D M ST CLAIR J Med Genet 2000; 37: 224-225. doi:10.1136/jmg.37.3.224 [Extract] [Full text] [PDF] [Request Permissions]
	Correlation between mutations and age in cystic fibrosis in a French Canadian population SYLVAIN R RIVARD, CHRISTIAN ALLARD, JEAN-PIERRE LEBLANC, MARCEL MILOT, GERVAIS AUBIN, FERNAND SIMARD, CLAUDE FÉREC, and MARC DE BRAEKELEER J Med Genet 2000; 37: 225-227. doi:10.1136/jmg.37.3.225 [Extract] [Full text] [PDF] [Request Permissions]
	The heritability of high myopia: a reanalysis of Goldschmidt's data JEREMY A GUGGENHEIM, GEORGE KIROV, and STUART A HODSON J Med Genet 2000; 37: 227-231. doi:10.1136/jmg.37.3.227 [Extract] [Full text] [PDF] [Request Permissions]
	Progressive neurological deterioration in a child with distal arthrogryposis and whistling face DORIT LEV, MIRIAM YANOOV, SHLOMO WEINTRAUB, and TALLY LERMAN-SAGIE J Med Genet 2000; 37: 231-233. doi:10.1136/jmg.37.3.231 [Extract] [Full text] [PDF] [Request Permissions]
	Chromosomal duplication of band 10p14 segregating through four generations LUCILLE VOULLAIRE, R J MCKINLAY GARDNER, CATHRYN VAUX, ANNE ROBERTSON, RALPH OERTEL, and HOWARD SLATER J Med Genet 2000; 37: 233-237. doi:10.1136/jmg.37.3.233 [Extract] [Full text] [PDF] [Request Permissions]
	Somatic mosaicism associated with a mild Alport syndrome phenotype KATE E PLANT, EILEEN BOYE, PETER M GREEN, DAVID VETRIE, and FRANCES A FLINTER J Med Genet 2000; 37: 238-239. doi:10.1136/jmg.37.3.238 [Extract] [Full text] [PDF] [Request Permissions]